Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Pcnx'

357949

Institutional Source

Beutler Lab

Gene Symbol

Pcnx

Ensembl Gene

ENSMUSG00000021140

Gene Name

pecanex homolog

Synonyms

3526401J03Rik, 2900024E21Rik

MMRRC Submission

042033-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81860023-82000924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 81950294 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 988 (L988R)

Ref Sequence

ENSEMBL: ENSMUSP00000152104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021567] [ENSMUST00000221721] [ENSMUST00000222005]

AlphaFold

Q9QYC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000021567
AA Change: L994R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: L994R

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	52	74	N/A	INTRINSIC
low complexity region	369	390	N/A	INTRINSIC
low complexity region	407	422	N/A	INTRINSIC
low complexity region	509	525	N/A	INTRINSIC
low complexity region	616	638	N/A	INTRINSIC
low complexity region	672	692	N/A	INTRINSIC
low complexity region	764	783	N/A	INTRINSIC
low complexity region	817	835	N/A	INTRINSIC
low complexity region	842	853	N/A	INTRINSIC
low complexity region	911	922	N/A	INTRINSIC
transmembrane domain	1006	1028	N/A	INTRINSIC
transmembrane domain	1035	1052	N/A	INTRINSIC
transmembrane domain	1070	1092	N/A	INTRINSIC
transmembrane domain	1113	1135	N/A	INTRINSIC
transmembrane domain	1163	1185	N/A	INTRINSIC
transmembrane domain	1197	1216	N/A	INTRINSIC
transmembrane domain	1269	1291	N/A	INTRINSIC
transmembrane domain	1298	1315	N/A	INTRINSIC
Pfam:Pecanex_C	1785	2011	1.6e-118	PFAM
low complexity region	2125	2140	N/A	INTRINSIC
low complexity region	2195	2202	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221675
AA Change: L355R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221721
AA Change: L988R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000222005

Meta Mutation Damage Score

0.4625

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,825,859		noncoding transcript	Het
Accs	T	C	2: 93,841,337	E236G	probably damaging	Het
Agrn	C	T	4: 156,173,522		probably benign	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Akap5	C	A	12: 76,327,807	C4*	probably null	Het
Amotl2	A	T	9: 102,720,480	H146L	probably damaging	Het
Ank1	A	G	8: 23,104,974	N666S	probably damaging	Het
Atp10d	A	T	5: 72,246,166	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,319,694	M582K	probably benign	Het
Brca2	T	A	5: 150,559,987		probably null	Het
C130079G13Rik	C	T	3: 59,936,314	A143V	probably benign	Het
C330021F23Rik	A	T	8: 3,583,922	S8C	probably damaging	Het
Ccdc149	A	G	5: 52,404,151	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdk5rap2	A	G	4: 70,238,425	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,230,871	M37L	probably benign	Het
Cenpk	A	T	13: 104,249,512	H305L	probably benign	Het
Ces5a	C	A	8: 93,535,677	A11S	probably benign	Het
Cfap65	T	C	1: 74,928,361	E186G	probably damaging	Het
Cfh	T	A	1: 140,088,808	I593F	probably damaging	Het
Clstn2	C	T	9: 97,445,673	V961I	probably benign	Het
Cog5	T	A	12: 31,869,406		probably null	Het
Col4a4	T	C	1: 82,541,174	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,715,506	D61G	probably damaging	Het
Dnah10	A	G	5: 124,747,745	N655S	probably benign	Het
Dnaic1	C	G	4: 41,610,269	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,550,799	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,244,016	D960V	probably damaging	Het
Fam167b	C	T	4: 129,578,342	G12R	probably damaging	Het
Fam20b	A	T	1: 156,687,496	Y266*	probably null	Het
Fer1l6	T	A	15: 58,640,211	V1509D	probably benign	Het
Fhad1	A	T	4: 141,928,483	I105N	probably damaging	Het
Fmo2	T	C	1: 162,888,805	D71G	probably damaging	Het
Folr2	T	C	7: 101,843,799	T6A	possibly damaging	Het
Fry	A	C	5: 150,398,254	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,429,367	I21T	probably damaging	Het
Gfra1	T	C	19: 58,453,244	Y85C	probably damaging	Het
Gm9117	T	C	3: 93,938,786		probably null	Het
Gpld1	A	T	13: 24,979,688	Y43F	probably benign	Het
Gpld1	T	A	13: 24,979,692	Y44*	probably null	Het
Grid2	A	G	6: 63,908,988	T123A	probably benign	Het
Grina	T	C	15: 76,249,242	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,094,795	A659V	probably benign	Het
H2-T10	T	A	17: 36,118,945	K319*	probably null	Het
Hey2	A	T	10: 30,834,304	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,623,558	T13I	probably benign	Het
Il1rap	C	A	16: 26,722,782	A591E	probably benign	Het
Ildr1	T	C	16: 36,722,021	L261P	probably benign	Het
Jak1	A	G	4: 101,174,157	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,269,273	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,471,016	T592S	probably benign	Het
Lrrc36	A	G	8: 105,452,144	T445A	possibly damaging	Het
Ly9	G	A	1: 171,607,238	S29F	probably damaging	Het
Mapk7	A	C	11: 61,490,843	C32W	probably damaging	Het
March10	C	T	11: 105,364,476		probably benign	Het
Mier2	A	T	10: 79,549,197	M119K	probably damaging	Het
Mpv17	A	T	5: 31,145,982	C59*	probably null	Het
Mrpl27	G	A	11: 94,653,833		probably benign	Het
Myo18b	G	A	5: 112,874,474	Q351*	probably null	Het
Myo1a	A	G	10: 127,715,688	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,806,913	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,814,739	A513E	probably benign	Het
Neb	T	C	2: 52,220,209	D209G	probably damaging	Het
Nkapl	T	A	13: 21,468,287	Q52L	unknown	Het
Nptx2	G	A	5: 144,546,440	S126N	probably benign	Het
Olfr13	G	A	6: 43,174,043	S19N	probably benign	Het
Olfr653	T	A	7: 104,580,061	Y138*	probably null	Het
Olfr829	A	T	9: 18,857,180	H185L	probably benign	Het
Olfr917	A	G	9: 38,665,832	V4A	probably benign	Het
Pclo	A	T	5: 14,714,348	R4278S	unknown	Het
Prl2c5	C	A	13: 13,189,385	N75K	probably benign	Het
Prpf19	T	G	19: 10,897,790		probably benign	Het
Ralgapa1	A	G	12: 55,712,748	S997P	probably damaging	Het
Rangap1	T	C	15: 81,712,917	T226A	probably benign	Het
Rimklb	G	A	6: 122,456,406	L262F	probably damaging	Het
Rnf169	A	G	7: 99,925,723	M555T	probably benign	Het
Rp1l1	A	T	14: 64,030,070	D1035V	probably benign	Het
Scd2	T	A	19: 44,301,352	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,325,531	M84L	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,372,386	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,052,794	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,406,666		probably benign	Het
Slc4a10	T	A	2: 62,296,988	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,186,564	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,325,049	G197S	probably damaging	Het
Smarca2	A	T	19: 26,654,483	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,184,099	N594K	probably benign	Het
Spata22	A	T	11: 73,345,756	D296V	probably damaging	Het
Sphk2	G	A	7: 45,713,634	A11V	possibly damaging	Het
Spp1	A	T	5: 104,435,215		probably benign	Het
Strn3	T	A	12: 51,610,216	I760L	possibly damaging	Het
Syk	A	T	13: 52,641,986	Y539F	probably benign	Het
Thsd7b	T	A	1: 130,210,264	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,597,212	E42*	probably null	Het
Tom1l1	T	C	11: 90,685,116	E30G	probably damaging	Het
Trav10	G	A	14: 53,506,061	A40T	probably benign	Het
Trav14-2	G	A	14: 53,640,780		probably benign	Het
Tril	T	A	6: 53,818,464	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,228,606	R179*	probably null	Het
Tspoap1	A	T	11: 87,771,663	D562V	possibly damaging	Het
Usp44	A	T	10: 93,846,906	H406L	probably damaging	Het
Vangl1	A	G	3: 102,158,292	I509T	probably benign	Het
Vax2	T	G	6: 83,711,397	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,147,026	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,801,700	D427V	probably benign	Het
Vwde	A	G	6: 13,205,852	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,963,470	A769S	probably damaging	Het
Xpo4	A	C	14: 57,618,181	S264A	probably benign	Het
Zfp330	A	T	8: 82,769,386	C75*	probably null	Het
Zfp526	T	A	7: 25,225,639	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,703,505	L462R	probably damaging	Het
Zfp719	T	A	7: 43,590,793	F602I	probably damaging	Het

Other mutations in Pcnx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Pcnx	APN	12	81895101	missense	probably damaging	0.98
IGL00561:Pcnx	APN	12	81996053	missense	probably damaging	1.00
IGL01066:Pcnx	APN	12	81992021	missense	possibly damaging	0.87
IGL01069:Pcnx	APN	12	81918144	missense	probably benign	0.27
IGL01082:Pcnx	APN	12	81990598	missense	possibly damaging	0.62
IGL01087:Pcnx	APN	12	81995339	splice site	probably benign
IGL01145:Pcnx	APN	12	81992035	missense	probably damaging	0.99
IGL01412:Pcnx	APN	12	81906465	missense	probably damaging	1.00
IGL01477:Pcnx	APN	12	81973241	missense	probably damaging	0.98
IGL01639:Pcnx	APN	12	81950320	critical splice donor site	probably null
IGL01815:Pcnx	APN	12	81990551	missense	probably damaging	1.00
IGL01870:Pcnx	APN	12	81975893	missense	probably benign	0.01
IGL01902:Pcnx	APN	12	81979094	missense	probably damaging	1.00
IGL01935:Pcnx	APN	12	81917816	missense	probably benign	0.00
IGL02141:Pcnx	APN	12	81860382	missense	possibly damaging	0.86
IGL02179:Pcnx	APN	12	81933719	intron	probably benign
IGL02197:Pcnx	APN	12	81919104	missense	probably benign	0.01
IGL02197:Pcnx	APN	12	81993151	missense	possibly damaging	0.85
IGL02238:Pcnx	APN	12	81917914	missense	probably damaging	1.00
IGL02430:Pcnx	APN	12	81919322	missense	possibly damaging	0.89
IGL02590:Pcnx	APN	12	81994978	missense	probably damaging	1.00
IGL02992:Pcnx	APN	12	81964120	missense	probably damaging	1.00
IGL03304:Pcnx	APN	12	81982029	missense	probably damaging	1.00
PIT4515001:Pcnx	UTSW	12	81991787	missense
R0086:Pcnx	UTSW	12	81992058	unclassified	probably benign
R0114:Pcnx	UTSW	12	81996095	missense	possibly damaging	0.95
R0240:Pcnx	UTSW	12	81947018	missense	possibly damaging	0.67
R0240:Pcnx	UTSW	12	81947018	missense	possibly damaging	0.67
R0376:Pcnx	UTSW	12	81974579	splice site	probably benign
R0377:Pcnx	UTSW	12	81974579	splice site	probably benign
R0416:Pcnx	UTSW	12	81974466	missense	probably benign	0.09
R0514:Pcnx	UTSW	12	81995110	missense	probably benign	0.21
R0563:Pcnx	UTSW	12	81917944	missense	probably damaging	1.00
R0569:Pcnx	UTSW	12	81992030	missense	probably benign	0.08
R0626:Pcnx	UTSW	12	81983676	missense	possibly damaging	0.82
R0972:Pcnx	UTSW	12	81913412	missense	probably damaging	1.00
R1205:Pcnx	UTSW	12	81956243	missense	probably damaging	1.00
R1455:Pcnx	UTSW	12	81973234	missense	probably damaging	1.00
R1514:Pcnx	UTSW	12	81918798	missense	probably damaging	1.00
R1731:Pcnx	UTSW	12	81990704	missense	probably damaging	1.00
R1758:Pcnx	UTSW	12	81983484	missense	probably benign	0.27
R1774:Pcnx	UTSW	12	81975320	missense	probably damaging	1.00
R1817:Pcnx	UTSW	12	81918642	missense	probably benign
R1843:Pcnx	UTSW	12	81980935	missense	probably damaging	1.00
R1862:Pcnx	UTSW	12	81918732	missense	probably damaging	1.00
R2042:Pcnx	UTSW	12	81918293	missense	probably damaging	1.00
R2054:Pcnx	UTSW	12	81933674	missense	probably benign	0.02
R2243:Pcnx	UTSW	12	81918705	missense	probably damaging	1.00
R2272:Pcnx	UTSW	12	81995314	missense	probably benign	0.26
R2360:Pcnx	UTSW	12	81950186	missense	probably damaging	0.99
R2926:Pcnx	UTSW	12	81994995	missense	probably damaging	1.00
R3607:Pcnx	UTSW	12	81928292	missense	probably damaging	1.00
R3781:Pcnx	UTSW	12	81996118	missense	probably benign	0.00
R3782:Pcnx	UTSW	12	81996118	missense	probably benign	0.00
R3806:Pcnx	UTSW	12	81950137	missense	possibly damaging	0.84
R3926:Pcnx	UTSW	12	81958731	missense	probably damaging	1.00
R4019:Pcnx	UTSW	12	81918244	missense	probably damaging	1.00
R4020:Pcnx	UTSW	12	81918244	missense	probably damaging	1.00
R4683:Pcnx	UTSW	12	81986672	missense	probably benign	0.01
R4703:Pcnx	UTSW	12	81895164	missense	probably benign	0.01
R4732:Pcnx	UTSW	12	81995751	missense	probably benign	0.01
R4733:Pcnx	UTSW	12	81995751	missense	probably benign	0.01
R4792:Pcnx	UTSW	12	81919151	missense	probably damaging	1.00
R4897:Pcnx	UTSW	12	81918165	missense	probably damaging	1.00
R4915:Pcnx	UTSW	12	81974495	missense	probably benign	0.10
R4934:Pcnx	UTSW	12	81991825	missense	possibly damaging	0.76
R4940:Pcnx	UTSW	12	81917793	missense	possibly damaging	0.60
R5079:Pcnx	UTSW	12	81979089	nonsense	probably null
R5087:Pcnx	UTSW	12	81994939	missense	probably damaging	1.00
R5284:Pcnx	UTSW	12	81919029	missense	probably benign	0.02
R5287:Pcnx	UTSW	12	81982051	missense	probably damaging	1.00
R5436:Pcnx	UTSW	12	81860406	missense	probably damaging	1.00
R5505:Pcnx	UTSW	12	81950153	missense	probably damaging	1.00
R5538:Pcnx	UTSW	12	81860409	missense	probably damaging	1.00
R5632:Pcnx	UTSW	12	81917730	missense	probably damaging	1.00
R5642:Pcnx	UTSW	12	81895029	missense	possibly damaging	0.45
R5841:Pcnx	UTSW	12	81918655	missense	possibly damaging	0.62
R6275:Pcnx	UTSW	12	81918607	missense	probably benign	0.34
R6508:Pcnx	UTSW	12	81912705	missense	probably damaging	0.98
R6532:Pcnx	UTSW	12	81980964	missense	probably damaging	1.00
R6634:Pcnx	UTSW	12	81917882	nonsense	probably null
R6753:Pcnx	UTSW	12	81964480	missense	probably damaging	1.00
R6776:Pcnx	UTSW	12	81962722	missense	possibly damaging	0.81
R6778:Pcnx	UTSW	12	81918871	missense	probably damaging	1.00
R6890:Pcnx	UTSW	12	81971376	missense	probably benign	0.09
R6894:Pcnx	UTSW	12	81987973	missense	probably damaging	1.00
R6927:Pcnx	UTSW	12	81917812	missense	probably benign	0.37
R7173:Pcnx	UTSW	12	81953003	splice site	probably null
R7196:Pcnx	UTSW	12	81995538	missense	possibly damaging	0.94
R7316:Pcnx	UTSW	12	81995549	missense	probably benign	0.16
R7559:Pcnx	UTSW	12	81993122	missense	unknown
R7635:Pcnx	UTSW	12	81919125	missense
R7669:Pcnx	UTSW	12	81990551	missense	probably damaging	1.00
R8021:Pcnx	UTSW	12	81918819	nonsense	probably null
R8049:Pcnx	UTSW	12	81918819	nonsense	probably null
R8078:Pcnx	UTSW	12	81975280	missense
R8093:Pcnx	UTSW	12	81918819	nonsense	probably null
R8104:Pcnx	UTSW	12	81983611	nonsense	probably null
R8108:Pcnx	UTSW	12	81918819	nonsense	probably null
R8109:Pcnx	UTSW	12	81918819	nonsense	probably null
R8131:Pcnx	UTSW	12	81918518	missense	possibly damaging	0.80
R8136:Pcnx	UTSW	12	81918006	missense	probably benign
R8153:Pcnx	UTSW	12	81918819	nonsense	probably null
R8156:Pcnx	UTSW	12	81918819	nonsense	probably null
R8202:Pcnx	UTSW	12	81895047	missense	probably benign	0.00
R8362:Pcnx	UTSW	12	81967056	missense
R8515:Pcnx	UTSW	12	81962716	missense	possibly damaging	0.83
R8803:Pcnx	UTSW	12	81993151	missense	possibly damaging	0.85
R8820:Pcnx	UTSW	12	81973248	missense
R8828:Pcnx	UTSW	12	81995823	missense	probably damaging	1.00
R8946:Pcnx	UTSW	12	81971384	missense	probably damaging	0.96
R8964:Pcnx	UTSW	12	81993038	missense
R9152:Pcnx	UTSW	12	81975815	missense
R9256:Pcnx	UTSW	12	81973273	missense
R9287:Pcnx	UTSW	12	81995549	missense	probably benign	0.07
R9289:Pcnx	UTSW	12	81982079	missense
R9414:Pcnx	UTSW	12	81918204	missense	probably damaging	1.00
R9445:Pcnx	UTSW	12	81918207	missense	probably damaging	0.98
R9595:Pcnx	UTSW	12	81918914	missense
R9600:Pcnx	UTSW	12	81983661	missense
R9620:Pcnx	UTSW	12	81950186	missense	probably damaging	0.99
RF024:Pcnx	UTSW	12	81917727	missense	probably damaging	0.98
Z1177:Pcnx	UTSW	12	81918202	missense	probably damaging	0.98
Z1177:Pcnx	UTSW	12	81918677	missense

Predicted Primers

PCR Primer
(F):5'- TGATTTACAAGCTGAGGAACTTAGG -3'
(R):5'- GCTCCGTTACTGTAAGTCTGC -3'

Sequencing Primer
(F):5'- CCCACAGATTCGGTTGAATAGACTG -3'
(R):5'- ACTGTAAGTCTGCTCTCAAGAGG -3'

Posted On

2015-11-11